Variant report

Variant	rs73917206
Chromosome Location	chr2:11602910-11602911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:11602772-11602940	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:11602138-11603357	K562	blood:	n/a	n/a
3	GATA3	chr2:11602804-11602926	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr2:11602652-11603013	PFSK-1	brain:	n/a	n/a
5	REST	chr2:11602732-11602963	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11595658..11598467-chr2:11600589..11603076,4	K562	blood:

Variant related genes	Relation type
ENSG00000269074	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs10803734	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56252168	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59554925	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61358269	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6739988	1.00[EUR][1000 genomes]
rs73180141	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917203	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917207	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7598673	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7608777	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
2	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
4	chr2:11587200-11605400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:11587400-11605200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11587600-11603800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:11587600-11605400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:11589000-11604800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:11589200-11605400	Weak transcription	Thymus	Thymus
10	chr2:11589400-11605400	Weak transcription	Fetal Kidney	kidney
11	chr2:11589600-11603200	Weak transcription	Spleen	Spleen
12	chr2:11589600-11605400	Weak transcription	Esophagus	oesophagus
13	chr2:11589800-11603800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11590000-11604000	Weak transcription	Brain Germinal Matrix	brain
15	chr2:11590200-11603800	Weak transcription	Small Intestine	intestine
16	chr2:11590200-11604800	Weak transcription	Primary B cells from cord blood	blood
17	chr2:11590200-11605400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:11591600-11603800	Weak transcription	Aorta	Aorta
19	chr2:11592000-11603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11592000-11603800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:11592400-11603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:11592600-11603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:11593400-11605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:11593600-11603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:11593800-11605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:11593800-11605200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:11594000-11603400	Weak transcription	Placenta	Placenta
28	chr2:11594000-11605000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:11594000-11605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:11594200-11603200	Weak transcription	Osteobl	bone
31	chr2:11594200-11605000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:11594200-11605000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:11594600-11604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:11595200-11604200	Weak transcription	NHDF-Ad	bronchial
35	chr2:11595200-11605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:11595400-11603400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:11595600-11603200	Weak transcription	Fetal Intestine Large	intestine
38	chr2:11595600-11605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:11596600-11603800	Weak transcription	Fetal Stomach	stomach
40	chr2:11596600-11604200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:11596800-11603600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:11596800-11604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:11596800-11604800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:11597000-11604200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:11597000-11604800	Weak transcription	Fetal Thymus	thymus
46	chr2:11597000-11605000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:11597000-11605200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:11597000-11605200	Weak transcription	NH-A	brain
49	chr2:11597200-11603400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:11597200-11603600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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